Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1123339
rs1123339
KAT7 ; FAM117A
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 GeneticVariation GWASCAT Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases. 29403010

2018
dbSNP: rs1123339
rs1123339
KAT7 ; FAM117A
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
Mean Corpuscular Volume (result) 		0.700 GeneticVariation GWASCAT Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases. 29403010

2018
dbSNP: rs35388001
rs35388001
FAM117A
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370

2019
dbSNP: rs35388001
rs35388001
FAM117A
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370

2019
dbSNP: rs575705078
rs575705078
FAM117A
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		G 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252

2016
dbSNP: rs79041579
rs79041579
FAM117A
CUI: C1304746
Disease: RDW - Red blood cell distribution width result
RDW - Red blood cell distribution width result 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370

2019
dbSNP: rs79041579
rs79041579
FAM117A
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370

2019